CDC37L1

Chr 9

cell division cycle 37 like 1, HSP90 cochaperone

Also known as: CDC37B, HARC

NCBI Gene: 55664 ENSG00000106993 UniProt: Q7L3B6

CDC37L1 encodes a co-chaperone that binds to numerous proteins and promotes their interaction with Hsp70 and Hsp90, functioning as part of the cellular protein folding machinery. The gene is highly constrained against loss-of-function variants (pLI=0.97, LOEUF=0.33), but no specific human diseases have been definitively associated with CDC37L1 mutations in the current literature. Further research is needed to establish clear genotype-phenotype correlations for this gene.

ResearchSummary from RefSeq, UniProt

CDC37L1 is a cytoplasmic phosphoprotein that exists in complex with HSP90 (HSPCA; MIM 140571) as well as several other proteins involved in HSP90-mediated protein folding (Scholz et al., 2001 [PubMed 11413142]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…

LOEUF 0.33

Clinical Summary— CDC37L1

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.97). One damaged copy is likely sufficient to cause disease.

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ClinVar Variants

42 VUS of 57 total submissions

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.33LOEUF

pLI 0.966

Z-score 3.65

OE 0.10 (0.04–0.33)

Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?

-0.14Z-score

OE missense 1.03 (0.91–1.17)

176 obs / 170.9 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.10 (0.04–0.33)

0≤0.351.4

Missense OE?1.03 (0.91–1.17)

0≤0.61.4

Synonymous OE?1.08

0≤1.21.6

LoF obs/exp: 2 / 19.3Missense obs/exp: 176 / 170.9Syn Z: -0.50

ClinVar Variant Classifications

57 submitted variants in ClinVar

ClinVar

Classification Summary

VUS42

Likely Benign3

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	42	0	42
Likely Benign	2	1	3
Benign	0	0	0
Total	44	1	45

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

170 pathogenic / likely-pathogenic (of 189) ClinVar copy-number / structural variants overlap CDC37L1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →